D27D (p.Asp27Asp) variant of ACTN2 (Alpha-actinin-2)
D27D (p.Asp27Asp) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D27D (p.Asp27Asp) variant details
- p.Asp27Asp
- gnomAD 1-236686754-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available